The large degree of clinical heterogeneity within each of the major categories of inherited neuropathies can lead to difficulties in making correct diagnoses based on clinical findings alone. The observation of key clinical findings coupled with electrophysiological findings and understanding of inheritance patterns, should allow the clinician to make judicious use of genetic testing to confirm...

We developed a general framework for family-based imputation using single-nucleotide polymorphism data and sequence data distributed by Genetic Analysis Workshop 18. By using PedIBD, we first inferred haplotypes and inheritance patterns of each family from SNP data. Then new variants in unsequenced family members can be obtained from sequenced relatives through their shared haplotypes. We then ...

Drosophila simulans and D. mauritiana differ markedly in morphology of the posterior lobe, a male-specific genitalic structure. Both size and shape of the lobe can be quantified by a morphometric variable, PCl, derived from principal components and Fourier analyses. The genetic architecture of the species difference in PCl was investigated previously by composite interval mapping, which reveale...

The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology. These are divided into three basic competencies: Disease Mechanisms and Processes, Organ System Pathology, and Diagnostic Medicine and Therapeutic Pathology. For additional information, and a full list of learning objecti...

MYOPATHIES Clinical Features Myopathies are diseases that primarily affect the muscles and are usually characterized clinically by weakness, fatigue, or stiffness (myotonia). They are usually characterized by symmetrical proximal muscle weakness and wasting, normal sensation, and normal stretch reflexes. More than one-half of muscle bulk must be lost before functional weakness can be demonstrat...

When considering inclusive fitness, it is expected that individuals will provide more care towards those with whom they are more closely related. Thus, if a selfish X-linked genetic element influenced care giving, we would expect care giving to vary with X-relatedness. Recent studies have shown that X-chromosome inheritance patterns may influence selection of traits affecting behavior and life-...

The present paper reports the mode of inheritance of resistance in laboratory induced temephos resistant and susceptible strains of Ae. aegypti. Homozygous resistant and susceptible strains of Ae. aegypti were generated by selective inbreeding at a diagnostic dose of 0.02 mg/L of temephos. Genetic crosses were carried out between these strains to determine the inheritance pattern of temephos re...

UNLABELLED BACKGROUND A high prevalence of autoimmune disease (AD) has been documented in relatives of adult patients with systemic lupus erythematosus (SLE). However, data on familial inheritance patterns in pediatric SLE patients is scarce. FINDINGS The charts of 69 patients with pediatric-onset SLE were reviewed retrospectively. The primary aim was to describe the prevalence and types o...

The diatom Pseudo-nitzschia multistriata exhibits a diplontic life cycle composed of an extensive phase of vegetative cell division and a brief phase of sexual reproduction. To explore genotypic stability, we genotyped seven polymorphic microsatellite loci in 26 monoclonal strains over 3-16 months in a culture maintenance regime. Moreover, to assess inheritance patterns of the microsatellite al...

Prochilodus lineatus is widely used in pisciculture projects, mainly in the south of Brazil. It shows a basic karyotype composed of 2n = 54 chromosomes, in addition to as many as seven supernumerary chromosomes, also known as B-chromosomes. These additional small chromosomes are frequently heterochromatic, vary in number and morphology, and generally have no homology with the A complement. Inte...